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MPZ Gene

protein-coding   GIFtS: 67
GCID: GC01M161274

Myelin Protein Zero

(Previous name: Charcot-Marie-Tooth neuropathy 1B)
(Previous symbols: CMT1, CMT1B)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myelin Protein Zero1 2 3     DSS2 5
CMT1B1 2 5     CMT2I2
CMT11 2     CMT2J2
Charcot-Marie-Tooth Neuropathy 1B1 2     CMT4E2
Myelin Peripheral Protein2 3     CMTDI32
MPP2 3     HMSNIB2
CHM2 5     P02
CMTDID2 5     Myelin Protein P02

External Ids:    HGNC: 72251   Entrez Gene: 43592   Ensembl: ENSG000001588877   OMIM: 1594405   UniProtKB: P251893   

Export aliases for MPZ gene to outside databases

Previous GC identifers: GC01M158985 GC01M157006 GC01M158052 GC01M158491 GC01M158087 GC01M159541 GC01M132631


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MPZ Gene:
This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal
dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. (provided by RefSeq, Apr 2010)

GeneCards Summary for MPZ Gene:
MPZ (myelin protein zero) is a protein-coding gene. Diseases associated with MPZ include charcot-marie-tooth disease type 2j, and charcot-marie-tooth neuropathy type 2i/2j. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is MPZL2.

UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189
Function: Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts
adjacent lamellae

Gene Wiki entry for MPZ (Myelin protein zero) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPZ gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPZ promoter sequence
   Search Chromatin IP Primers for MPZ

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPZ


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q22

MPZ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPZ gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161274:  view genomic region     (about GC identifiers)

Start:
161,274,525 bp from pter      End:
161,279,762 bp from pter
Size:
5,238 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189 (See protein sequence)
Recommended Name: Myelin protein P0 precursor  
Size: 248 amino acids; 27555 Da
Subunit: Homodimer and homotetramer (Probable)
Sequence caution: Sequence=AAH06491.1; Type=Erroneous initiation; Sequence=AAP35411.1; Type=Erroneous initiation;
Sequence=BAA03540.1; Type=Erroneous initiation; Sequence=BAG36330.1; Type=Erroneous initiation;
Sequence=CAH70270.1; Type=Erroneous initiation; Sequence=EAW52606.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for MPZ:
1N2P (3D)        3OAI (3D)    
Secondary accessions: Q16072 Q5VTH4 Q92677 Q9BR67
Alternative splicing: 2 isoforms:  P25189-1   P25189-2   (Based on a naturally occurring readthrough transcript. Highly antigenic)

Explore the universe of human proteins at neXtProt for MPZ: NX_P25189

Explore proteomics data for MPZ at MOPED

Post-translational modifications: 

  • N-glycosylated; contains sulfate-substituted glycan (By similarity)1
  • Glycosylation2 at Asn122
  • Modification sites at PhosphoSitePlus

  • See MPZ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000521.2  
    ENSEMBL proteins: 
     ENSP00000431538   ENSP00000432943   ENSP00000431441   ENSP00000337777   ENSP00000353634  

    MPZ Human Recombinant Protein Products:

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    OriGene Purified Protein for MPZ
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    OriGene MassSpec for MPZ
    OriGene Custom Protein Services for MPZ
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    Novus Biologicals MPZ Protein
    Novus Biologicals MPZ Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MPZ

    MPZ Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MPZ
    Browse R&D Systems for Antibodies
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    Novus Biologicals MPZ Antibodies
    Abcam antibodies for MPZ
    Cloud-Clone Corp. Antibodies for MPZ
    Search ThermoFisher Antibodies for MPZ
    LSBio Antibodies in human, mouse, rat for MPZ

    MPZ Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MPZ
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    Cloud-Clone Corp. ELISAs for MPZ
    Cloud-Clone Corp. CLIAs for MPZ


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VSET: Immunoglobulin superfamily / V-set domain containing

    Selected InterPro protein domains (see all 7):
     IPR019566 Myelin-PO_C
     IPR003596 Ig_V-set_subgr
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry P25189

    ProtoNet protein and cluster: P25189

    3 Blocks protein domains:
    IPB000920 Myelin P0 protein
    IPB003596 Immunoglobulin V-type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189
    Similarity: Belongs to the myelin P0 protein family
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    MPZ for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYP0_HUMAN, P25189
    Function: Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts
    adjacent lamellae

         Genatlas biochemistry entry for MPZ:
    myelin protein zero,14.8kDa,adhesion molecule,expressed in Schwann all of the peripheral nervous sytem,involved in
    formation and maintenance of compact myelin

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS7693129
    GO:0005515protein binding ----
         
    MPZ for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MPZ:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mpz):
     behavior/neurological  cellular  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  nervous system  reproductive system 

    MPZ for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mpztm1Msch for MPZ

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPZ
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MPZ

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPZ
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPZ

    miRNA
    Products:
        
    miRTarBase miRNAs that target MPZ:
    hsa-mir-215-5p (MIRT024694), hsa-mir-26b-5p (MIRT029824), hsa-mir-192-5p (MIRT026666)

    Block miRNA regulation of human, mouse, rat MPZ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPZ (see all 33):
    hsa-miR-223 hsa-miR-1304 hsa-miR-149 hsa-miR-637 hsa-miR-2116 hsa-miR-616 hsa-miR-4264 hsa-miR-483-5p
    SwitchGear 3'UTR luciferase reporter plasmidMPZ 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MPZ
    Predesigned siRNA for gene silencing in human, mouse, rat MPZ

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MPZ

    Clone
    Products:
         
    OriGene clones in human, mouse for MPZ (see all 6)
    OriGene ORF clones in mouse, rat for MPZ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPZ (NM_000530)
    Sino Biological Human cDNA Clone for MPZ
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPZ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPZ

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MPZ
    Browse ESI BIO Cell Lines and PureStem Progenitors for MPZ 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPZ


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYP0_HUMAN, P25189: Cell membrane; Single-pass type I membrane protein
    MYP0_HUMAN, P25189: Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    cytoskeleton2
    endoplasmic reticulum2
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane NAS7693130
    GO:0005887integral component of plasma membrane TAS7506095
    GO:0016021integral component of membrane ----
    GO:0043209myelin sheath IEA--

    MPZ for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MPZ About    
    See pathways by source

    SuperPathContained pathways About
    1Neural Crest Differentiation
    Neural Crest Differentiation
    2Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MPZ
        Neural Crest Differentiation



    1 Kegg Pathway  (Kegg details for MPZ):
        Cell adhesion molecules (CAMs)


    MPZ for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPZ
    Interactions:

        GeneGlobe Interaction Network for MPZ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for MPZ (P251892, 3 ENSP000003536344) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PINX1Q96BK52, 3MINT-64537 I2D: score=3 
    PMP22Q014533, ENSP000003089374I2D: score=3 STRING: ENSP00000308937
    CCP110O433033I2D: score=1 
    KCNMA1Q127913I2D: score=1 
    SENP3ENSP000003140294STRING: ENSP00000314029
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS7693129
    GO:0045217cell-cell junction maintenance IEA--

    MPZ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MPZ (MYP0)

    Selected Novoseek inferred chemical compound relationships for MPZ gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2',3'-cyclic nucleotide 84.5 10 10658180 (1), 12225906 (1), 19187445 (1), 19473295 (1) (see all 10)
    dihydroprogesterone 70.1 4 17187935 (2), 15850671 (1), 10340743 (1)
    benzyldimethyl-n-hexadecylammonium chloride 64 1 17960831 (1)
    glatiramer acetate 48.7 3 18611988 (1), 14732933 (1), 11113226 (1)
    sulfatide 40.3 2 15193296 (2)
    cerebrosides 34.9 1 7800125 (1)
    3-((3-cholamidopropyl)dimethylammonio)-1-propanesulfonate 32.4 1 12872231 (1)
    tellurium 28.4 1 9342732 (1)
    pentosidine 22.2 2 7751847 (1), 12198817 (1)
    ganglioside 18.9 3 1966017 (1), 18342620 (1)



    MPZ for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MPZ gene: 
    NM_000530.6  

    Unigene Cluster for MPZ:

    Myelin protein zero
    Hs.591486  [show with all ESTs]
    Unigene Representative Sequence: NM_000530
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463290 ENST00000533357(uc001gaf.4) ENST00000491222 ENST00000526189
    ENST00000476410 ENST00000488271 ENST00000336559 ENST00000360451

    miRNA
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    Block miRNA regulation of human, mouse, rat MPZ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MPZ (see all 33):
    hsa-miR-223 hsa-miR-1304 hsa-miR-149 hsa-miR-637 hsa-miR-2116 hsa-miR-616 hsa-miR-4264 hsa-miR-483-5p
    SwitchGear 3'UTR luciferase reporter plasmidMPZ 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MPZ
    Predesigned siRNA for gene silencing in human, mouse, rat MPZ
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    OriGene ORF clones in mouse, rat for MPZ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPZ (NM_000530)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPZ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPZ
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MPZ
    OriGene qSTAR qPCR primer pairs in human, mouse for MPZ
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPZ
      QuantiTect SYBR Green Assays in human, mouse, rat MPZ
      QuantiFast Probe-based Assays in human, mouse, rat MPZ

    Additional mRNA sequence: 

    AK313555.1 BT006765.1 D10537.1 S66705.1 

    6 DOTS entries:

    DT.100797878  DT.100027827  DT.100797876  DT.91757439  DT.100797877  DT.97773438 

    Selected AceView cDNA sequences (see all 106):

    BQ717695 BQ879736 NM_000530 BQ719539 BQ718902 BQ898128 BQ889715 BM663255 
    CD514837 CD245726 CD172418 BX088991 CD515605 BQ719047 CD517340 BT006765 
    CD172268 CD518464 CD172164 BQ942129 BF509916 CD519678 CD517321 CD245143 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MPZ    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
    SP1:        -                                                     -         
    SP2:        -                                                               
    SP3:                                                                        
    SP4:                                -                                       


    ECgene alternative splicing isoforms for MPZ

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MPZ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTTTTGC
    MPZ Expression
    About this image


    MPZ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             Myelinating Schwann Cells Peripheral Nerve Domain
             Schwann cells
             Schwann-like cells
     
     Schwann Cells (Nervous System)    fully expand to see all 2 entries
             Schwann cells
             Schwann-like cells
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    MPZ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPZ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591486

    UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189
    Tissue specificity: Found only in peripheral nervous system Schwann cells

        Custom PCR Arrays for MPZ
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPZ
    QuantiTect SYBR Green Assays in human, mouse, rat MPZ
    QuantiFast Probe-based Assays in human, mouse, rat MPZ
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPZ

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MPZ gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpz1 , 5 myelin protein zero1, 5 91.24(n)1
    93.64(a)1
      1 (79.05 cM)5
    175281  NM_008623.41  NP_032649.21 
     1711507115 
    chicken
    (Gallus gallus)
    Aves LOC1008596051 myelin protein P0-like 72.6(n)
    72.88(a)
      100859605  XM_003643815.2  XP_003643863.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mpz1 myelin protein zero 68.7(n)
    65.5(a)
      780198  NM_001079273.1  NP_001072741.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpz2 myelin protein zero 69.31(n)   114417  AJ489219.1 


    ENSEMBL Gene Tree for MPZ (if available)
    TreeFam Gene Tree for MPZ (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MPZ gene
    MPZL22  SCN2B2  MPZL32  MPZL12  SCN4B2  
    4 SIMAP similar genes for MPZ using alignment to 3 protein entries:     MYP0_HUMAN (see all proteins):
    P0    MPZL1    MPZL2    MPZL3

    MPZ for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MPZ (see all 321)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0045024
    Charcot-Marie-Tooth disease 1B (CMT1B)4--see VAR_0045022 T I mis40--------
    VAR_0159784
    Roussy-Levy syndrome (ROULS)4--see VAR_0159782 N K mis40--------
    VAR_0045034
    Charcot-Marie-Tooth disease 2I (CMT2I)4--see VAR_0045032 S F mis40--------
    VAR_0045254
    Dejerine-Sottas syndrome (DSS)4--see VAR_0045252 I T mis40--------
    VAR_0299784
    Neuropathy, congenital hypomyelinating or amyelinating (CHN)4--see VAR_0299782 T K mis40--------
    VAR_0045414
    Charcot-Marie-Tooth disease 1B (CMT1B)4--see VAR_0045412 T M mis40--------
    VAR_0216094
    Charcot-Marie-Tooth disease 2I (CMT2I)4--see VAR_0216092 D N mis40--------
    VAR_0045374
    Charcot-Marie-Tooth disease 1B (CMT1B)4--see VAR_0045372 D N mis40--------
    VAR_0299764
    Dejerine-Sottas syndrome (DSS)4--see VAR_0299762 G D mis40--------
    VAR_0159764
    Charcot-Marie-Tooth disease 1B (CMT1B)4--see VAR_0159762 G E mis40--------

    HapMap Linkage Disequilibrium report for MPZ (161274525 - 161279762 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MPZ:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517826CNV Gain19592680

    Human Gene Mutation Database (HGMD): MPZ
    Locus Specific Mutation Databases (LSDB): MPZ

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MPZ
    DNA2.0 Custom Variant and Variant Library Synthesis for MPZ

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 159440   
    OMIM disorders: 118200  145900  605253  607736  180800  607677  607791  
    UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189
  • Charcot-Marie-Tooth disease 1B (CMT1B) [MIM:118200]: A dominant demyelinating form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction
    velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve
    biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Charcot-Marie-Tooth disease 2I (CMT2I) [MIM:607677]: A dominant axonal form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in
    the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and
    progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Charcot-Marie-Tooth disease 2J (CMT2J) [MIM:607736]: A dominant axonal form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in
    the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and
    progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
    Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with
    hearing loss and pupillary abnormalities such as Adie pupil. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Adie pupil (ADIEP) [MIM:103100]: A stationary, benign disorder characterized by tonic, sluggishly
    reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth
    disease type 2J. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Charcot-Marie-Tooth disease, dominant, intermediate type, D (CMTDID) [MIM:607791]: A form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant
    intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and
    axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
    Note=The disease may be caused by mutations affecting the gene represented in this entry
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating
    Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy
    with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic
    nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal
    recessive forms of Dejerine-Sottas syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Neuropathy, congenital hypomyelinating or amyelinating (CHN) [MIM:605253]: A severe degenerating
    neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early
    onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as
    3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at
    birth, and complete absence of myelin shown by electron microscopy of peripheral nerves. Inheritance can be
    autosomal dominant or recessive. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Roussy-Levy syndrome (ROULS) [MIM:180800]: Autosomal dominant disorder that resembles Charcot-Marie-Tooth
    disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially
    the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the
    upper limbs and gait ataxia. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for MPZ (see all 74):    
    About MalaCards
    charcot-marie-tooth disease type 2j    charcot-marie-tooth neuropathy type 2i/2j    tooth disease    congenital hypomyelination neuropathy
    autosomal dominant intermediate charcot-marie-tooth disease    autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain    charcot-marie-tooth neuropathy type 1b    charcot-marie-tooth disease
    charcot-marie-tooth disease type 2i    charcot-marie-tooth disease type 1b    foot drop    charcot-marie-tooth disease dominant intermediate 3
    charcot-marie-tooth disease type 4e    mpz-related intermediate charcot-marie-tooth neuropathy    charcot-marie-tooth disease type 1    spinal cord injury
    polyneuropathy    acute disseminated encephalomyelitis    charcot-marie-tooth neuropathy type 1a    polyradiculoneuropathy

    4 diseases from the University of Copenhagen DISEASES database for MPZ:
    Neuropathy     Myopathy     Polyneuropathy     Brachial plexus neuropathy

    MPZ for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for MPZ gene (see all 49)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 96.4 250 12207932 (4), 1733853 (4), 7504284 (4), 15170620 (3) (see all 99)
    dejerine-sottas disease 95.4 37 10399750 (2), 9488160 (2), 9072299 (1), 9222756 (1) (see all 24)
    hereditary neuropathy 92.5 19 8800924 (1), 10589461 (1), 12207932 (1), 10226313 (1) (see all 18)
    neuropathy, congenital hypomyelinating 92.3 11 20385006 (1), 11701152 (1), 16252242 (1), 15261887 (1) (see all 7)
    demyelination 85.6 29 16856127 (2), 10586253 (2), 11112514 (1), 17961136 (1) (see all 24)
    hereditary peripheral neuropathy 85.1 3 10586252 (1), 7693873 (1)
    sensory neuropathy 82 18 8797476 (1), 10219749 (1), 8599717 (1), 11299480 (1) (see all 14)
    multiple sclerosis 79.4 40 1693015 (1), 1384994 (1), 7679413 (1), 7537052 (1) (see all 40)
    demyelinating diseases 78 12 15844172 (1), 18172773 (1), 10430042 (1), 10500203 (1) (see all 12)
    hmsn type i 77 2 11080236 (1)

    GeneTests: MPZ
    GeneReviews: MPZ
    Genetic Association Database (GAD): MPZ
    Human Genome Epidemiology (HuGE) Navigator: MPZ (9 documents)

    Export disorders for MPZ gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MPZ gene, integrated from 10 sources (see all 526):
    (articles sorted by number of sources associating them with MPZ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. (PubMed id 7693129)1, 2, 3, 4 Hayasaka K.... Chance P.F. (Nat. Genet. 1993)
    2. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (PubMed id 10071056)1, 2, 4, 9 De Jonghe P.... Van Broeckhoven C. (Brain 1999)
    3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 2, 4, 9 Boerkoel C.F.... Lupski J.R. (Ann. Neurol. 2002)
    4. An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). (PubMed id 11080237)1, 2, 4, 9 Misu K.... Sobue G. (J. Neurol. Neurosurg. Psych. 2000)
    5. Mutations in the myelin protein zero gene associated with Charcot- Marie-Tooth disease type 1B. (PubMed id 7550231)1, 2, 4, 9 Latour P.... Vandenberghe A. (Hum. Mutat. 1995)
    6. Phenotypic clustering in MPZ mutations. (PubMed id 14711881)1, 2, 9 Shy M.E.... Kamholz J. (Brain 2004)
    7. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. (PubMed id 8664899)1, 2, 9 Roa B.B.... Lupski J.R. (Hum. Mutat. 1996)
    8. Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients. (PubMed id 7504284)1, 2, 9 Su Y....Lebo R.V. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    9. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. (PubMed id 19293842)1, 4, 9 Mandich P....Bellone E. (Eur. J. Hum. Genet. 2009)
    10. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. (PubMed id 12477701)1, 2, 9 Hattori N.... Sobue G. (Brain 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 4359 HGNC: 7225 AceView: MPZ Ensembl:ENSG00000158887 euGenes: HUgn4359
    ECgene: MPZ Kegg: 4359 H-InvDB: MPZ

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MPZ Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MPZ[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPZ gene:
    Search GeneIP for patents involving MPZ

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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